Incidental Mutation 'R1804:H2-D1'
ID 203416
Institutional Source Beutler Lab
Gene Symbol H2-D1
Ensembl Gene ENSMUSG00000073411
Gene Name histocompatibility 2, D region locus 1
Synonyms H-2D
MMRRC Submission 039834-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R1804 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35482070-35486473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35482528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 83 (Y83H)
Ref Sequence ENSEMBL: ENSMUSP00000134570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172785]
AlphaFold no structure available at present
PDB Structure CRYSTAL STRUCTURE OF MURINE CLASS I MHC H2-DB COMPLEXED WITH A SYNTHETIC PEPTIDE P1027 [X-RAY DIFFRACTION]
MHC CLASS I H-2DB COMPLEXED WITH A SENDAI VIRUS NUCLEOPROTEIN PEPTIDE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33(C9M) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH SYNTHETIC PEPTIDE GP33 (C9M/K1A) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MURINE CLASS I H-2DB COMPLEXED WITH PEPTIDE GP33 (C9M/K1S) [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE LCMV PEPTIDIC EPITOPE GP33 IN COMPLEX WITH THE MURINE CLASS I MHC MOLECULE H-2DB [X-RAY DIFFRACTION]
THE THREE-DIMENSIONAL STRUCTURE OF H-2DB AT 2.4 ANGSTROMS RESOLUTION: IMPLICATIONS FOR ANTIGEN-DETERMINANT SELECTION [X-RAY DIFFRACTION]
Structure of Minor Histocompatibility Antigen peptide, H13a, complexed to H2-Db [X-RAY DIFFRACTION]
Crystal Structure Of The LCMV Peptidic Epitope Gp276 In Complex With The Murine Class I Mhc Molecule H-2Db [X-RAY DIFFRACTION]
Crystal Structure Of The LCMV Peptidic Epitope Np396 In Complex With The Murine Class I Mhc Molecule H-2Db [X-RAY DIFFRACTION]
>> 46 additional structures at PDB <<
Predicted Effect probably benign
Transcript: ENSMUST00000172503
SMART Domains Protein: ENSMUSP00000134582
Gene: ENSMUSG00000073411

DomainStartEndE-ValueType
SCOP:d1hdma1 2 21 3e-8 SMART
Pfam:MHC_I_C 57 81 1.9e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172785
AA Change: Y83H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134570
Gene: ENSMUSG00000073411
AA Change: Y83H

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:MHC_I 25 203 8.3e-93 PFAM
IGc1 222 293 4.73e-23 SMART
transmembrane domain 308 330 N/A INTRINSIC
Pfam:MHC_I_C 337 361 1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173167
SMART Domains Protein: ENSMUSP00000133518
Gene: ENSMUSG00000073411

DomainStartEndE-ValueType
SCOP:d1hdma1 2 21 3e-8 SMART
Pfam:MHC_I_C 52 76 1.7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174325
Meta Mutation Damage Score 0.5217 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.5%
  • 20x: 89.8%
Validation Efficiency 96% (77/80)
MGI Phenotype PHENOTYPE: Mice homozygous for a spontaneous allele are susceptible to chronic Theiler's Murine Encephalomyelitis Virus (TMEV) infection and demyelination, and lack the ability to respond to the viral peptide VP2121-130, the single Ag driving the protective CD8 T cell response in wild-type B6 mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,400 (GRCm39) Y220H probably benign Het
4930579C12Rik T C 9: 89,034,113 (GRCm39) noncoding transcript Het
Abcc8 T C 7: 45,769,903 (GRCm39) S871G probably benign Het
Acly T C 11: 100,406,731 (GRCm39) Y288C probably damaging Het
Adgrb1 T A 15: 74,401,389 (GRCm39) D128E probably damaging Het
Alms1 C T 6: 85,598,257 (GRCm39) Q1497* probably null Het
Bltp2 A G 11: 78,164,295 (GRCm39) H1165R probably damaging Het
Cacna1c G A 6: 118,664,007 (GRCm39) T688M probably damaging Het
Ccdc7a A T 8: 129,715,247 (GRCm39) L279* probably null Het
Cep135 A G 5: 76,784,779 (GRCm39) E958G probably benign Het
Clec4n G T 6: 123,206,981 (GRCm39) V2L possibly damaging Het
Col28a1 C T 6: 8,164,612 (GRCm39) probably null Het
Dcaf5 A G 12: 80,386,603 (GRCm39) S508P probably benign Het
Dlgap2 C A 8: 14,777,809 (GRCm39) N351K possibly damaging Het
Dnah8 T A 17: 30,927,381 (GRCm39) Y1346N probably benign Het
Dqx1 T C 6: 83,037,303 (GRCm39) V322A probably damaging Het
Ebf3 A C 7: 136,802,250 (GRCm39) L412V possibly damaging Het
Epha5 T C 5: 84,479,674 (GRCm39) N110S probably benign Het
Fcgbp T C 7: 27,785,564 (GRCm39) C334R probably benign Het
Glp1r T A 17: 31,149,687 (GRCm39) probably null Het
Gm4952 G T 19: 12,595,784 (GRCm39) R58L probably damaging Het
Gm7579 G A 7: 141,765,675 (GRCm39) C27Y unknown Het
Golm1 T A 13: 59,790,203 (GRCm39) probably null Het
Gucy2g T A 19: 55,198,741 (GRCm39) I801F probably benign Het
Homez A T 14: 55,094,598 (GRCm39) I19N probably damaging Het
Hoxa5 T C 6: 52,179,628 (GRCm39) K249R probably damaging Het
Hsd17b4 A T 18: 50,311,051 (GRCm39) N550Y probably damaging Het
Ipo4 A T 14: 55,866,913 (GRCm39) N668K probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klb A G 5: 65,537,196 (GRCm39) D842G probably damaging Het
Minar1 T A 9: 89,485,152 (GRCm39) M82L possibly damaging Het
Mmp21 G T 7: 133,280,611 (GRCm39) P120T probably benign Het
Mroh7 T A 4: 106,551,589 (GRCm39) I918F possibly damaging Het
Muc5b A G 7: 141,417,517 (GRCm39) T3488A possibly damaging Het
Npc1 C T 18: 12,356,145 (GRCm39) C42Y probably damaging Het
Ogdh A G 11: 6,288,565 (GRCm39) Y214C probably damaging Het
Or2q1 G A 6: 42,795,155 (GRCm39) C250Y possibly damaging Het
Or4k15c A T 14: 50,321,359 (GRCm39) W260R probably damaging Het
Or4k35 T C 2: 111,100,275 (GRCm39) M146V probably benign Het
Or5al1 G T 2: 85,990,417 (GRCm39) T99N probably benign Het
Or8d23 A G 9: 38,841,946 (GRCm39) T160A possibly damaging Het
Phtf1 A G 3: 103,894,883 (GRCm39) probably benign Het
Plb1 A G 5: 32,511,041 (GRCm39) N1302S possibly damaging Het
Prex2 A G 1: 11,202,566 (GRCm39) K492E probably damaging Het
Prkaa1 A G 15: 5,208,259 (GRCm39) D509G probably benign Het
Rims2 C T 15: 39,300,439 (GRCm39) Q57* probably null Het
Rnf40 T C 7: 127,195,120 (GRCm39) V411A possibly damaging Het
Rraga A G 4: 86,494,681 (GRCm39) I176V probably damaging Het
Rrm2 T C 12: 24,758,611 (GRCm39) I51T probably benign Het
Serpina3a T A 12: 104,084,675 (GRCm39) probably benign Het
Skint7 T C 4: 111,839,209 (GRCm39) W168R probably damaging Het
Slc27a4 A G 2: 29,701,279 (GRCm39) M357V probably benign Het
Slc4a3 A G 1: 75,528,361 (GRCm39) H452R probably damaging Het
Smc1b A T 15: 85,011,991 (GRCm39) I127K possibly damaging Het
Snap91 T A 9: 86,665,470 (GRCm39) M383L probably benign Het
Taf6l A T 19: 8,750,998 (GRCm39) L52Q probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tas2r124 A G 6: 132,732,488 (GRCm39) I266V probably benign Het
Tesk2 T C 4: 116,657,818 (GRCm39) probably benign Het
Tmem131l T G 3: 83,817,786 (GRCm39) Q1237P possibly damaging Het
Tmem67 A G 4: 12,045,789 (GRCm39) probably null Het
Tnfaip8 T A 18: 50,223,728 (GRCm39) C179S probably damaging Het
Ush2a G A 1: 188,365,926 (GRCm39) probably null Het
Vps13b A T 15: 35,917,283 (GRCm39) E3709V probably damaging Het
Wdr7 A T 18: 63,998,511 (GRCm39) S1153C probably damaging Het
Zc2hc1b A C 10: 13,047,012 (GRCm39) probably benign Het
Zfp438 A G 18: 5,213,689 (GRCm39) I423T probably damaging Het
Zfp592 C A 7: 80,673,443 (GRCm39) P136T probably damaging Het
Zfp783 T A 6: 47,922,819 (GRCm39) noncoding transcript Het
Zfp804b A T 5: 6,821,756 (GRCm39) S400T possibly damaging Het
Other mutations in H2-D1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:H2-D1 APN 17 35,484,785 (GRCm39) missense possibly damaging 0.91
IGL02207:H2-D1 APN 17 35,482,390 (GRCm39) missense possibly damaging 0.94
IGL02949:H2-D1 APN 17 35,483,064 (GRCm39) missense probably benign 0.02
Ancillum UTSW 17 35,482,487 (GRCm39) missense probably damaging 0.98
subaltern UTSW 17 35,482,913 (GRCm39) missense probably damaging 0.99
R0627:H2-D1 UTSW 17 35,484,898 (GRCm39) missense probably damaging 1.00
R0904:H2-D1 UTSW 17 35,482,837 (GRCm39) missense probably benign 0.00
R1238:H2-D1 UTSW 17 35,482,908 (GRCm39) missense probably damaging 1.00
R1500:H2-D1 UTSW 17 35,482,564 (GRCm39) missense probably benign 0.01
R1508:H2-D1 UTSW 17 35,482,844 (GRCm39) missense probably damaging 1.00
R1627:H2-D1 UTSW 17 35,482,471 (GRCm39) missense possibly damaging 0.79
R1730:H2-D1 UTSW 17 35,482,381 (GRCm39) missense probably damaging 1.00
R1964:H2-D1 UTSW 17 35,482,595 (GRCm39) missense probably benign 0.06
R2125:H2-D1 UTSW 17 35,483,091 (GRCm39) critical splice donor site probably null
R4652:H2-D1 UTSW 17 35,485,492 (GRCm39) critical splice donor site probably null
R4911:H2-D1 UTSW 17 35,484,973 (GRCm39) missense probably damaging 1.00
R4965:H2-D1 UTSW 17 35,482,881 (GRCm39) missense probably damaging 1.00
R5423:H2-D1 UTSW 17 35,484,883 (GRCm39) missense probably damaging 1.00
R6109:H2-D1 UTSW 17 35,482,913 (GRCm39) missense probably damaging 0.99
R7525:H2-D1 UTSW 17 35,484,909 (GRCm39) missense probably damaging 1.00
R7697:H2-D1 UTSW 17 35,482,121 (GRCm39) missense probably damaging 1.00
R7832:H2-D1 UTSW 17 35,482,848 (GRCm39) missense probably damaging 0.99
R7903:H2-D1 UTSW 17 35,482,967 (GRCm39) missense probably damaging 0.99
R8004:H2-D1 UTSW 17 35,485,672 (GRCm39) missense probably benign 0.00
R8167:H2-D1 UTSW 17 35,485,741 (GRCm39) missense
R8465:H2-D1 UTSW 17 35,482,487 (GRCm39) missense probably damaging 0.98
R8786:H2-D1 UTSW 17 35,482,844 (GRCm39) missense probably damaging 1.00
R9188:H2-D1 UTSW 17 35,484,778 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACACTCGATGCGGTATTTC -3'
(R):5'- GGACTCCTCCAAACTGAAAGGG -3'

Sequencing Primer
(F):5'- CGATGCGGTATTTCGAGACC -3'
(R):5'- GTTCCCAAACCTCGGACTTGG -3'
Posted On 2014-06-23